Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.
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Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens RC
Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.
Nat Struct Biol. 1997 Dec;4(12):995-1000.
- PubMed ID
- 9406548 [ View in PubMed]
- Abstract
The 2.0 A crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals a fold similar to that of tyrosine hydroxylase. It provides the first structural view of where mutations occur and a rationale to explain molecular mechanisms of the enzymatic phenotypes in the autosomal recessive disorder phenylketoneuria.